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66 records – page 1 of 7.

[Age dynamics of genetic variation in an isolated population of chalk pine Pinus sylvestris var. cretacea Kalenicz. ex Kom. from Donbass]

https://arctichealth.org/en/permalink/ahliterature81675
Source
Genetika. 2006 May;42(5):659-66
Publication Type
Article
Date
May-2006
Author
Korshikov I I
Mudrik E A
Source
Genetika. 2006 May;42(5):659-66
Date
May-2006
Language
Russian
Publication Type
Article
Keywords
Alleles
Inbreeding
Pinus sylvestris - genetics
Ukraine
Variation (Genetics)
Abstract
Based on analysis of variation at ten allozyme loci in three age groups (25-35, 40-80, and more than 100 years of age) of plants and in seed embryos, demographic dynamics of the gene pools was studied in a small (60.5 ha) isolated relict population of chalk pine Pinus sylvestris var. cretacea Kalenicz. ex Kom. from the steppe zone of Ukraine. The observed grenotype proportions in these tree groups were shown to fit Hardy-Weinberg expectations, while in the embryos of their seeds, an excess of homozygotes was observed at five to nine loci. The mean observed heterozygosity in the sample of old (> 100 years of age) trees (H(O) = 0.225) was substantially lower than in trees of the two other age groups (H(O) = 0.307; 0.311), but significantly higher than in the corresponding embryo samples (H(O) = 0.183-0.207). No allele and genotype heterogeneity of the maternal trees and embryos of their seeds was found. However, heterogeneity was high when the progeny of trees of different ages, particularly in pairs with old trees, were compared.
PubMed ID
16808246 View in PubMed
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Alaskan Husky encephalopathy--a canine neurodegenerative disorder resembling subacute necrotizing encephalomyelopathy (Leigh syndrome).

https://arctichealth.org/en/permalink/ahliterature6759
Source
Acta Neuropathol (Berl). 2000 Jul;100(1):50-62
Publication Type
Article
Date
Jul-2000
Author
O. Brenner
J J Wakshlag
B A Summers
A. de Lahunta
Author Affiliation
Department of Biomedical Sciences, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853-6401, USA.
Source
Acta Neuropathol (Berl). 2000 Jul;100(1):50-62
Date
Jul-2000
Language
English
Publication Type
Article
Keywords
Age Factors
Age of Onset
Alaska
Animals
Brain - pathology - physiopathology
Central Nervous System - pathology - physiopathology
Disease Progression
Dog Diseases - pathology - physiopathology
Dogs
Female
Inbreeding
Leigh Disease - veterinary
Male
Research Support, Non-U.S. Gov't
Spinal Cord - pathology - physiopathology
Abstract
The gross and histopathological findings in the brain and spinal cord of five Alaskan Husky dogs with a novel incapacitating and ultimately fatal familial and presumed hereditary neurodegenerative disorder are described. Four dogs presented with neurological deficits before the age of 1 year (7-11 months) and one animal at 2.5 years old. Clinical signs in all dogs were of acute onset and included ataxia, seizures, behavioral abnormalities, blindness, facial hypalgesia and difficulties in prehension of food. In animals allowed to survive, the disease was static but with frequent recurrences. Pathological findings were limited to the central nervous system. Grossly visible bilateral and symmetrical cavitated foci were consistently present in the thalamus with variable extension into the caudal brain stem. Microscopic lesions were more widespread and included foci of bilateral and symmetrical degeneration in the basal nuclei, midbrain, pons and medulla, as well as multifocal lesions at the base of sulci in the cerebral cortex and in the gray matter of cerebellar folia in the ventral vermis. Neuronal loss with concomitant neuronal sparing, spongiosis, vascular hypertrophy and hyperplasia, gliosis, cavitation and transient mixed inflammatory infiltration were the main histopathological findings. In addition, a population of reactive gemistocytic astrocytes with prominent cytoplasmic vacuolation was noted in the thalamus. Lesions of this nature in this distribution within the neuroaxis have not been reported in dogs. The neuropathological findings resemble Leigh's disease/subacute necrotizing encephalomyelopathy of man. Neuronal sparing in conjunction with apparently transient astrocytic vacuolation point to the possible pathogenetic role of astrocytes in the evolution of these lesions. An inherited metabolic derangement of unknown nature is postulated as the cause of this breed-specific disorder.
PubMed ID
10912920 View in PubMed
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[A neurogenetic study in an inbred population].

https://arctichealth.org/en/permalink/ahliterature252825
Source
Genetika. 1975;10(8):158-66
Publication Type
Article
Date
1975
Author
L G Kalmykova
E R Zakharova
Source
Genetika. 1975;10(8):158-66
Date
1975
Language
Russian
Publication Type
Article
Keywords
Adult
Chromosome Aberrations
Chromosome Disorders
Female
Genetic Diseases, Inborn - genetics
Humans
Hyperkinesis - genetics
Inbreeding
Male
Pedigree
Russia
Syndrome
Abstract
A Tatar family from a semi-isolated village in the Gorky Region is described in which a neurological and ophthalmological syndrome was inherited. In homozygotes this syndrome comprised the degeneration of subcortical cerebral ganglia (hyperkinesis), nystagmus, oligophrenia and a peculiar variant of tapetoretinal degeneration. Heterozygotes exhibited ophthalmological abnormalities, such as the similar defects of eye bottom and nystagmus. The two homozygotes observed were sibs derived from a marriage between first cousins. Five more families with other rare hereditary anomalies (both dominant and recessive) were discovered in this village. The total inbreeding coefficient in the village was found to be 0.0075. The high degree of inbreeding, subisolation and high fertility are regarded as factors favorable for the distribution of rare deleterious mutations due to the founder-effect.
PubMed ID
131735 View in PubMed
Less detail
Source
Pages 40-78 in P.L. Jamison, S.L. Zegura, and F.A. Milan, eds. Eskimos of northwestern Alaska. A biological perspective. Dowden, Hutchinson & Ross, Inc., Stroudsburg, PA. US/IBP Synthesis Series 8.
Publication Type
Book/Book Chapter
Date
1978
Author
Jamison, P.L.
Author Affiliation
Indiana University
Source
Pages 40-78 in P.L. Jamison, S.L. Zegura, and F.A. Milan, eds. Eskimos of northwestern Alaska. A biological perspective. Dowden, Hutchinson & Ross, Inc., Stroudsburg, PA. US/IBP Synthesis Series 8.
Date
1978
Language
English
Geographic Location
U.S.
Publication Type
Book/Book Chapter
Physical Holding
Alaska Medical Library
Keywords
Wainwright
Point Hope
Barrow
Anaktuvuk Pass
Kaktovik
Height
Weight
Skinfold thickness
Stature
Inbreeding
Sexual dimorphism
Head circumference
Growth and development
Notes
From: Fortuine, Robert et al. 1993. The Health of the Inuit of North America: A Bibliography from the Earliest Times through 1990. University of Alaska Anchorage. Citation number 1257.
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[A population-biochemical study of mentally retarded persons in the Tula region (a geneologic analysis of families of probands with hereditary metabolic defects)].

https://arctichealth.org/en/permalink/ahliterature253996
Source
Genetika. 1974;10(10):129-34
Publication Type
Article
Date
1974

Association between radiographic assessment of hip status and subsequent incidence of veterinary care and mortality related to hip dysplasia in insured Swedish dogs.

https://arctichealth.org/en/permalink/ahliterature98846
Source
Prev Vet Med. 2010 Feb 1;93(2-3):222-32
Publication Type
Article
Date
Feb-1-2010
Author
Sofia Malm
Freddy Fikse
Agneta Egenvall
Brenda N Bonnett
Lotta Gunnarsson
Ake Hedhammar
Erling Strandberg
Author Affiliation
Department of Animal Breeding and Genetics, Faculty of Veterinary Medicine and Animal Science, Swedish University of Agricultural Sciences, P.O. 7023, SE-750 07 Uppsala, Sweden. Sofia.Malm@hgen.slu.se
Source
Prev Vet Med. 2010 Feb 1;93(2-3):222-32
Date
Feb-1-2010
Language
English
Publication Type
Article
Keywords
Animals
Breeding
Dogs
Female
Genetic Predisposition to Disease
Hip Dysplasia, Canine - diagnosis - genetics - mortality - radiography
Inbreeding
Insurance, Health - statistics & numerical data
Male
Mass Screening
Multivariate Analysis
Proportional Hazards Models
Risk factors
Species Specificity
Sweden
Veterinary Medicine - statistics & numerical data
Abstract
Our objective was to evaluate the association between grading of hip status as assessed by radiographic examination (hip screening) and subsequent incidence of veterinary care and mortality related to hip dysplasia (HD) in five breeds of insured dogs in Sweden. Screening results for hip status from the Swedish Kennel Club and data on veterinary care and mortality from the insurance company Agria were merged based on the registration number of the dog. Dogs of five breeds (Bernese Mountain Dogs, German Shepherds, Golden Retrievers, Labrador Retrievers, and Rottweilers) screened during 1995-2004 and covered by an insurance plan for veterinary care or life at the time of screening were included. The study populations included between 1667 and 10,663 dogs per breed. Breed-specific multivariable Cox proportional-hazards analyses were performed to evaluate the impact of radiographic hip status on time from hip screening to first HD-related veterinary and life claim, respectively. The effects of gender, birth season, and a time-varying covariate of year were also studied. Additional analyses, on the five breeds combined, were performed to investigate the effects of hip status, breed, and the interaction between hip status and breed. The effect of hip status was highly significant (P
PubMed ID
19819036 View in PubMed
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Balance between inbreeding and outcrossing in a nannandrous species, the moss Homalothecium lutescens.

https://arctichealth.org/en/permalink/ahliterature273183
Source
Heredity (Edinb). 2016 Jan;116(1):107-13
Publication Type
Article
Date
Jan-2016
Author
F. Rosengren
N. Cronberg
B. Hansson
Source
Heredity (Edinb). 2016 Jan;116(1):107-13
Date
Jan-2016
Language
English
Publication Type
Article
Keywords
Bryophyta - genetics
DNA, Plant - genetics
Genetic Variation
Genetics, Population
Genotype
Germ Cells, Plant
Haplotypes
Heterozygote
Homozygote
Inbreeding
Polymorphism, Single Nucleotide
Sequence Analysis, DNA
Sweden
Abstract
Epiphytic dwarf males on the females present a possible solution to the problem of short fertilization distances in mosses. However, leptokurtic spore dispersal makes dwarf males likely to be closely related to their host shoot, with an accompanying risk of inbreeding. The capacity of a female to harbour a high number of different dwarf males suggests that there may be mechanisms in place that counteract inbreeding, such as polyandry and post-fertilization selection. We have genotyped sporophytes, female host shoots and dwarf males in four populations of the moss Homalothecium lutescens. We found no evidence of selective sporophyte abortion based on level of heterozygosity. The occurrence of entirely homozygous sporophytes together with significantly positive inbreeding coefficients in three of the populations (mean FIS between 0.48 and 0.64) suggest frequent mother-son mating events. However, 23% of all sampled sporophytes had a higher level of heterozygosity compared with the mean expected heterozygosity at the population level. Polyandry was frequent, on average 59% of the sporophytes on a female shoot were sired by distinct fathers. In conclusion, sporadic fertilizations by dwarf males originating from nonhost female shoots appear to counteract strong inbreeding.
Notes
Cites: Mol Ecol. 2001 Oct;10(10):2423-3411742546
Cites: Phytochemistry. 2003 Apr;62(7):1145-5112591270
Cites: Cold Spring Harb Symp Quant Biol. 2003;68:69-7815338605
Cites: Heredity (Edinb). 2007 Jan;98(1):38-4417006534
Cites: Proc Biol Sci. 2007 Nov 22;274(1627):2873-917785268
Cites: Biol Lett. 2015 Jul;11(7). pii: 20150427. doi: 10.1098/rsbl.2015.042726136048
Cites: J Theor Biol. 2009 May 7;258(1):121-619171154
Cites: Heredity (Edinb). 2009 Nov;103(5):394-40319623211
Cites: New Phytol. 2011 Jul;191(1):301-621366596
Cites: Philos Trans R Soc Lond B Biol Sci. 2013 Mar 5;368(1613):2012005123339242
Cites: Genome Biol Evol. 2014 May;6(5):1238-5224879432
Cites: Science. 2008 Nov 21;322(5905):1241-319023079
PubMed ID
26328759 View in PubMed
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Bayesian inference of inbreeding depression in controlled crosses.

https://arctichealth.org/en/permalink/ahliterature45887
Source
Evolution Int J Org Evolution. 2003 Aug;57(8):1947-51
Publication Type
Article
Date
Aug-2003
Author
Patrik Waldmann
Author Affiliation
Department of Biology, University of Oulu, P.O. Box 3000, 900 14 Oulu, Finland. patrik.waldmann@rni.helsinki.fi
Source
Evolution Int J Org Evolution. 2003 Aug;57(8):1947-51
Date
Aug-2003
Language
English
Publication Type
Article
Keywords
Analysis of Variance
Angiosperms - genetics
Bayes Theorem
Crosses, Genetic
Inbreeding
Models, Genetic
Abstract
This study shows how a Gibbs sampling approach can be used for Bayesian inference of inbreeding depression. The method presented is mainly concerned with organisms that can be both selfed and outcrossed. Tests performed on simulated data with unequal variances and missing observations show that the method works well. Real data from the plant Scabiosa canescens is also analyzed.
PubMed ID
14503634 View in PubMed
Less detail

Characterization of canine rod photoreceptor cGMP-gated cation channel alpha-subunit gene and exclusion of its involvement in the hereditary retinal dystrophy of Swedish Briards.

https://arctichealth.org/en/permalink/ahliterature51013
Source
Gene. 1997 Nov 20;202(1-2):115-9
Publication Type
Article
Date
Nov-20-1997
Author
A. Veske
S E Nilsson
A. Gal
Author Affiliation
Institut für Humangenetik, Universitäts-Krankenhaus Eppendorf, Hamburg, Germany.
Source
Gene. 1997 Nov 20;202(1-2):115-9
Date
Nov-20-1997
Language
English
Publication Type
Article
Keywords
Amino Acid Sequence
Animals
Cattle
Cyclic GMP - genetics
DNA, Complementary - chemistry - isolation & purification
Dog Diseases - genetics
Dogs
Exons
Humans
Inbreeding
Introns
Ion Channels - chemistry - genetics - physiology
Mice
Molecular Sequence Data
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Rats
Research Support, Non-U.S. Gov't
Retinal Degeneration - genetics - veterinary
Rod Outer Segments - chemistry - physiology
Sequence Homology, Amino Acid
Sweden
Abstract
The nucleotide sequence of the canine rod photoreceptor cGMP-gated cation channel alpha-subunit (cCNCG1) cDNA has been determined. The open reading frame consists of 2073 nucleotides, which encode a putative protein of 691 amino acids. In addition, we have established the exon/intron boundaries of the cCNCG1 gene and determined the complete sequence of six introns of a total of eight. The exon/intron organization (location and length of exons and introns) of the cCNCG1 gene is very similar to that of the human rod photoreceptor cGMP-gated cation channel alpha-subunit gene. We used single-strand conformation polymorphism analysis to search for potential pathogenic sequence changes in the cCNCG1 gene in a Swedish Briard and Briard-Beagle dog kindred, in which an autosomal recessive retinal dystrophy is segregating, a disease which shows phenotypic similarities to retinitis pigmentosa, a heterogeneous group of hereditary and progressive retinal degeneration in human. In intron 3, we found several DNA polymorphisms, which do not cosegregate with the affected status of the dogs, thus excluding cCNCG1 as a candidate gene for the retinal dystrophy in this strain of Swedish Briards.
PubMed ID
9427553 View in PubMed
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Common variable immunodeficiency, Hodgkin's disease, and other malignancies in a Newfoundland family.

https://arctichealth.org/en/permalink/ahliterature252561
Source
Lancet. 1975 Jan 25;1(7900):195-7
Publication Type
Article
Date
Jan-25-1975
Author
S K Buehler
F. Firme
G. Fodor
G R Fraser
W H Marshall
P. Vaze
Source
Lancet. 1975 Jan 25;1(7900):195-7
Date
Jan-25-1975
Language
English
Publication Type
Article
Keywords
Adult
Autopsy
Biopsy
Child
Child, Preschool
Consanguinity
Female
Hodgkin Disease - genetics - pathology - transmission
Humans
Immunologic Deficiency Syndromes - genetics
Inbreeding
Infant
Lymphoma, Non-Hodgkin - genetics
Male
Middle Aged
Neoplasms - genetics
Neuroblastoma - genetics
Newfoundland and Labrador
Pedigree
Retinoblastoma - genetics
Rhabdomyosarcoma - genetics
Sarcoma - genetics
Thymoma - genetics
Abstract
A large inbred family is described in which there were seven cases of Hodgkin's disease, three of lymphosarcoma, two of thymoma, two of common variable immunodeficiency, and single cases of retinoblastoma, neuroblastoma, and rhabdomyosarcoma. There have been no other lymphoma cases in the community during the past decade. Further study of this family may help to define the genetic basis for development of Hodgkin's disease and other disorders.
PubMed ID
47422 View in PubMed
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66 records – page 1 of 7.